Defective Uptake of Basic Amino Acids and L-cystine by Intestinal Mucosa of Patients with Cystinuria.
نویسندگان
چکیده
منابع مشابه
Cystinuria: Defective Intestinal Transport of Dibasic Amino Acids and Cystine.
The clinical manifestations of cystinuria are localized to the urinary tract and result from the formation of cystine calculi. The findings of increased excretion of cystine, lysine, arginine, and ornithine in the urine at a time when the plasma levels of these amino acids were normal or low suggested to Dent and Rose (2) that a renal tu-1)ular reabsorptive site, shared by the involved amino ac...
متن کاملIntestinal transport of cystine and cysteine in man: evidence for separate mechanisms.
Cystine and cysteine are transported by energy-dependent, mediated processes in human gut. When either of these amino acids is transported, only cysteine is recovered intracellularly, indicating that cystine is reduced to cysteine after achieving an intracellular location. In contrast to results with cystine, cysteine uptake is not defective in gut from cystinuric patients, nor do lysine and ar...
متن کاملBiochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I-II.
10 families with cystinuria were investigated by measuring: (a) quantitative 24 hr urinary excretion of amino acids by column chromatography; (b) endogenous renal clearances of amino acids and creatinine; (c) intestinal uptake of (34)C-labeled L-cystine, L-lysine, and L-arginine using jejunal mucosal biopsies; (d) oral cystine loading tests. All four of these were studied in the probands and th...
متن کاملNon-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13-yr-old boy with cystinuria who manifested difficulty in walking, ataxia, and mental retardation....
متن کاملTransport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease.
Transport of lysine, arginine, cystine, and tryptophan was studied in cultured skin fibroblasts from normal controls and from patients with cystinuria and Hartnup disease. Each of these amino acids was accumulated against concentration gradients by energy-dependent, saturable mechanisms. Lysine and arginine were each transported by two distinct processes which they shared with each other and wi...
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ورودعنوان ژورنال:
- The Journal of clinical investigation
دوره 43 شماره
صفحات -
تاریخ انتشار 1964